Familial pulmonary fibrosis
Gene: DTNBP1EnsemblGeneIds (GRCh38): ENSG00000047579
EnsemblGeneIds (GRCh37): ENSG00000047579
OMIM: 607145, Gene2Phenotype
DTNBP1 is in 4 panels
2 reviews
Philip Molyneaux (Imperial College)
HP related genotype with no fibrotic component
Created: 26 Apr 2017, 9:54 a.m.
Alice Gardham (Genomics England)
Mutations only identified in two individuals -neither had pulmonary fibrosisCreated: 9 Feb 2017, 9:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 7 614076
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Hermansky-Pudlak syndrome 7 614076
- OMIM
- 607145
- Clinvar variants
- Variants in DTNBP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076
Set publications
Alice Gardham (Genomics England)Publications for DTNBP1 were set to 12923531
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for DTNBP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)DTNBP1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)DTNBP1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory